" /> Severe Congenital Neutropenia Type 3, Autosomal Recessive - CISMeF





Preferred Label : Severe Congenital Neutropenia Type 3, Autosomal Recessive;

NCIt synonyms : Neutropenia, Severe Congenital, 3, Autosomal Recessive; Kostmann Syndrome; Autosomal Recessive SCN, Type 3;

NCIt related terms : Kostmann neutropenia; Kostmann disease;

NCIt definition : Severe congenital neutropenia inherited in an autosomal recessive pattern and caused by HCLS1-associated protein X-1 (HAX1) mutations.;

NCI Metathesaurus CUI : CL939667;

Codes from synonyms : CDR0000644749; CDR0000644750; CDR0000644747;

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30/07/2025


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